Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.92810309T= , CM000676.2:g.92810309T= | GRCh38 |
| NC_000014.8:g.93276654T= , CM000676.1:g.93276654T= | GRCh37 |
| NC_000014.7:g.92346407T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005113.4:c.1048T= MANE Select | NP_005104.4:p.Phe350= |
| ENST00000163416.7:c.1048T= MANE Select | ENSP00000163416.2:p.Phe350= |
| ENST00000163416.6:c.1048T= | ENSP00000163416.2:p.Phe350= |
| ENST00000555793.1:n.192T= | |
| XM_011537420.1:c.1048T= | XP_011535722.1:p.Phe350= |
| XM_011537420.3:c.1048T= | XP_011535722.1:p.Phe350= |